1231626009: Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Syndromic nanophthalmos due to Kenny-Caffey syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5073661019 Syndromic nanophthalmos due to Kenny-Caffey syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5073662014 Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5598571000052118 syndrom med mikroftalmi orsakat av Kennys syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Is a	Microphthalmos	true	Inferred relationship	Some
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Due to	Kenny syndrome	true	Inferred relationship	Some	2
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Finding site	Entire eye	true	Inferred relationship	Some	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5073661019	Syndromic nanophthalmos due to Kenny-Caffey syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5073662014	Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5598571000052118	syndrom med mikroftalmi orsakat av Kennys syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)